排序方式: 共有12条查询结果,搜索用时 15 毫秒
1.
Kalay E Yigit G Aslan Y Brown KE Pohl E Bicknell LS Kayserili H Li Y Tüysüz B Nürnberg G Kiess W Koegl M Baessmann I Buruk K Toraman B Kayipmaz S Kul S Ikbal M Turner DJ Taylor MS Aerts J Scott C Milstein K Dollfus H Wieczorek D Brunner HG Hurles M Jackson AP Rauch A Nürnberg P Karagüzel A Wollnik B 《Nature genetics》2011,43(1):23-26
Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation. 相似文献
2.
Résumé L'étude d'un précurseur probable dans la production de l'acide nicotinique par leMycobacterium tuberculosis hominis, révéla que les acides aminiques hétérocycliques, qui sont indispensables à plusieurs organismes, comme le tryptophan et
l'histidine, sont bactériostatiques à l'organisme. Cet organisme se développait dans une solution synthétique de Proskauer
& Beck (Vorwald's modification). Les acides aminiques tels que l'ornithine et l'arginine aidèrent à sa croissance et favorisèrent la production
d'acide nicotinique, ressemblant sur ce point à l'asparagine.
Des études préliminaires faites sur des cobayes infectés par l'organisme tuberculeux confirmèrent l'effet bactériostatique
du tryptophanein vitro. Du tryptophane fut administré, de fa?on sous-cutanée, à raison de 125 mg par jour pour 10 jours consécutifs, immédiatement
après l'infection, à un groupe d'animaux. Un second groupe subit le même traitement, mais à deux semaines du jour de l'infection.
Un troisième groupe fut infecté, mais laissé sans traitement. Tous ces animaux furent observés pendant 9 semaines. Après examen
bactériologique, microscopipue et macroscopique, l'effet bactériostatique du tryptophanein vivo put être démontré.
相似文献
3.
Résumé L'étude des effets de l'indole sur l'organismeM. tuberculosis hominis révéla qu'il est bactériostatiquein vitro etin vivo chez les cobayes infectés par lui (5 mg par jour pendant 15 jours). Les acides indol-acétiques et indolpropioniques sont aussi légèrement tuberculostatiques. 相似文献
4.
Ikbal Zaki Boctor 《Cellular and molecular life sciences : CMLS》1981,37(2):125-126
Summary The concentration of free amino acids in the haemolymph of non-diapausing and diapausing pupae ofHeliothis armigera was investigated. 20 amino acids were detected in the haemolymph of the studied stages. Asparagine, glutamine, cystine, ornithine, histidine and valine were the predominant free amino acids at all stages. The diapause resulted in increased levels of most of the amino acids. 相似文献
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6.
Potential toxins of acute liver failure and their effects on blood-brain barrier permeability 总被引:1,自引:0,他引:1
The effects of potentials toxins of hepatic coma on the blood-brain barrier (BBB) permeability of the rat have been examined using the Oldendorf technique. Classical toxins of hepatic failure such as ammonia, methyl octanoate, mercaptans, and phenol caused significant increases in BBB permeability. A slight increase in permeability occurred following infusion of peroxidized linoleic acid and unconjugated bilirubin but no increase after infusion of bile acids. E. coli endotoxin infused into rats following partial hepatectomy also increased the BBB permeability. 相似文献
7.
Lee JE Silhavy JL Zaki MS Schroth J Bielas SL Marsh SE Olvera J Brancati F Iannicelli M Ikegami K Schlossman AM Merriman B Attié-Bitach T Logan CV Glass IA Cluckey A Louie CM Lee JH Raynes HR Rapin I Castroviejo IP Setou M Barbot C Boltshauser E Nelson SF Hildebrandt F Johnson CA Doherty DA Valente EM Gleeson JG 《Nature genetics》2012,44(2):193-199
Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has been suggested to be important for ciliary function. However, its relationship to disorders of the primary cilium, termed ciliopathies, has not been explored. Here we mapped a new locus for Joubert syndrome (JBTS), which we have designated as JBTS15, and identified causative mutations in CEP41, which encodes a 41-kDa centrosomal protein. We show that CEP41 is localized to the basal body and primary cilia, and regulates ciliary entry of TTLL6, an evolutionarily conserved polyglutamylase enzyme. Depletion of CEP41 causes ciliopathy-related phenotypes in zebrafish and mice and results in glutamylation defects in the ciliary axoneme. Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 相似文献
8.
I. Z. Boctor 《Cellular and molecular life sciences : CMLS》1980,36(1):36-37
Summary
Ceratitis capitata pupae, 2–3 days before adult emergence, were treated with gamma irradiation from a60Co source. The female fruit flies were extracted and analyzed for free amino acids. 相似文献
9.
Ikbal Zaki Boctor 《Cellular and molecular life sciences : CMLS》1980,36(6):638-639
Summary Free amino acids in the haemolymph ofSpodoptera littoralis full-grown larvae infected with a nuclearpolyhedrosis virus were compared with those in the haemolymph of normal insects. Amino acids were separated by 2-dimensional paper chromatography and quantified colorimetrically. Most of the amino acids in the haemolymph of diseased full-grown larvae decreased markedly in concentration but proline, lysine, aspartic acid and histidine occurred in greater concentration in the haemolymph of diseased full-grown larvae than in the haemolymph of healthy insects. 相似文献
10.
Summary Amino acids contained in extracts of adultEutetranychus orientalis were separated and determined quantitatively by 2-dimensional paper chromatography. 14 amino acids were identified. Asparagine, ornithine, histidine, lysine, aspartic acid, serine and glycine were the major components of the free amino acid pool, comprising 83.94% of the total content. 相似文献